BOTTEGA, ROBERTA

BOTTEGA, ROBERTA

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BOTTEGA, ROBERTA 

Dipartimento di Scienze della Vita 

Collaboratori 

Pubblicazioni

Risultati 1 - 20 di 33 (tempo di esecuzione: 0.0 secondi).

TitoloData di pubblicazioneAutoriFile
1ACTN1 : identification of novel mutations in a cohort of Italian IMTP patients2014FALESCHINI, MICHELA  ; BOTTEGA, ROBERTA  ; BAJ, Gabriele  ; SAVOIA, ANNA    riservati
2ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia2018FALESCHINI, MICHELA  ; GIANGREGORIO, TANIA  ; BOTTEGA, ROBERTA  ; SAVOIA, ANNA  ;  riservati
3ACTN1-related thrombocytopenia: Identification of novel families for phenotypic characterization2015BOTTEGA, ROBERTA  ; FALESCHINI, MICHELA  ; BAJ, Gabriele  ; SAVOIA, ANNA  ;  Open Access
4Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia2014SAVOIA, ANNA  ; BOTTEGA, ROBERTA  ; DE ROCCO, DANIELA  ; FALESCHINI, MICHELA  ;  Open Access
5Clinical and genetic aspects Bernard-Soulier syndrome: searching for genotype/phenotype correlations.2011SAVOIA, ANNA  ; DE ROCCO, DANIELA  ; DI STAZIO, MARIATERESA  ; BOTTEGA, ROBERTA  ; -
6Clinical and Laboratory Features of of 103 Patients From 42 Italian Families with Inherited Thrimbocytopenia Derived from the Monoallelic Ala156Val Mutation of GPIb Alpha (Bolzano Mutation)2011BOTTEGA, ROBERTA  ; DE ROCCO, DANIELA  ; SAVOIA, ANNA  ; -
7Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIb{alpha} (Bolzano mutation).2012BOTTEGA, ROBERTA  ; DE ROCCO, DANIELA  ; SAVOIA, ANNA  ; -
8Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing2015NICCHIA, ELENA  ; GRECO, CHIARA  ; BOTTEGA, ROBERTA  ; FALESCHINI, MICHELA  ; BONIN, Serena  ; SAVOIA, ANNA    riservati
9Combining next generation sequencing with clinical studies to unravel novel inherited thrombocytopenias affecting half of the patients / identificazione di nuovi geni coinvolti nell'insorgenza di piastrinopenie ereditarie tramite tecnologie di sequenziamento di ultima generazione2015BOTTEGA, ROBERTA  ; FALESCHINI, MICHELA  ; BAJ, Gabriele  ; SAVOIA, ANNA  ;  riservati
10Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency2013BOTTEGA, ROBERTA  ; DE ROCCO, DANIELA  ; SAVOIA, ANNA  -
11Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α‐granule deficiency2013BOTTEGA, ROBERTA  ; SAVOIA, ANNA  -
12Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation2022FALESCHINI, MICHELA  ; PAPA, NICOLE  ; GIANGREGORIO, TANIA  ; SAVOIA, ANNA  ; BOTTEGA, ROBERTA    Open Access
13Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome2016BOTTEGA, ROBERTA  ; FALESCHINI, MICHELA  ; SAVOIA, ANNA  ;  Open Access
14FANCA nel mitocondrio: qualche ruolo diretto?2015BOTTEGA, ROBERTA  ; DE ROCCO, DANIELA  ; BORTUL, Roberta  ; FALESCHINI, MICHELA  ; NICCHIA, ELENA  ; ZWEYER, MARINA  ; SAVOIA, ANNA    Open Access
15Fanconi anemia patients are more susceptible to infection with tumor virus SV40.2013COMAR, Manola  ; DE ROCCO, DANIELA  ; BOTTEGA, ROBERTA  ; SAVOIA, ANNA  -
16Fanconi anemia patients are more susceptible to SV40 infection2013COMAR, Manola  ; SAVOIA, ANNA  ; DE ROCCO, DANIELA  ; BOTTEGA, ROBERTA  ; -
17Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 42019BOTTEGA, ROBERTA  ; PERRONE, MARIA DOLORES  ; VECCHIATO, KATY  ; TADDIO, ANDREA  ; PECILE, VANNA  ; MOHAMED SAID, LAILA  ;  riservati
18GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme2022BOTTEGA, ROBERTA  ; PERSICO, ILARIA  ; FALESCHINI, MICHELA  ; VALENCIC, ERICA  ; D'ADAMO, ADAMO PIO  ; TOMMASINI, ALBERTO  ; FALETRA, FLAVIO  ; SAVOIA, ANNA    Open Access
19Gray Platelet Syndrome: association of NBEAL2 mutations with thrombocytopenia and absence of alpha-granules in platelets2012BOTTEGA, ROBERTA  ; DE ROCCO, DANIELA  ; SAVOIA, ANNA  -
20Gray platelet syndrome: Novel mutations of the NBEAL2 gene2017BOTTEGA, ROBERTA  ; NICCHIA, ELENA  ; SAVOIA, ANNA    riservati
 
 
 
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